Variant report

Variant	rs4817147
Chromosome Location	chr21:28346681-28346682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12483612	0.84[EUR][1000 genomes]
rs1497288	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162488	1.00[ASN][1000 genomes]
rs162490	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162491	1.00[ASN][1000 genomes]
rs162492	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162493	1.00[ASN][1000 genomes]
rs162498	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162501	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162503	1.00[ASN][1000 genomes]
rs162504	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162505	1.00[ASN][1000 genomes]
rs162507	1.00[ASN][1000 genomes]
rs162508	1.00[ASN][1000 genomes]
rs162510	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs162516	1.00[ASN][1000 genomes]
rs162520	1.00[ASN][1000 genomes]
rs162521	1.00[ASN][1000 genomes]
rs162531	1.00[ASN][1000 genomes]
rs162533	1.00[ASN][1000 genomes]
rs162534	1.00[ASN][1000 genomes]
rs162535	1.00[ASN][1000 genomes]
rs162536	1.00[ASN][1000 genomes]
rs162537	1.00[ASN][1000 genomes]
rs162538	1.00[ASN][1000 genomes]
rs162539	1.00[ASN][1000 genomes]
rs162540	1.00[ASN][1000 genomes]
rs162541	1.00[ASN][1000 genomes]
rs1908952	0.85[EUR][1000 genomes]
rs229053	1.00[JPT][hapmap]
rs229060	1.00[ASN][1000 genomes]
rs229061	1.00[ASN][1000 genomes]
rs229063	1.00[ASN][1000 genomes]
rs229064	1.00[ASN][1000 genomes]
rs229069	1.00[ASN][1000 genomes]
rs229071	1.00[ASN][1000 genomes]
rs229076	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229078	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229085	1.00[ASN][1000 genomes]
rs229087	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229088	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229093	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229095	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229097	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs229103	1.00[ASN][1000 genomes]
rs233899	1.00[ASN][1000 genomes]
rs233900	1.00[ASN][1000 genomes]
rs2830556	1.00[ASN][1000 genomes]
rs457947	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73358063	1.00[ASN][1000 genomes]
rs73358075	1.00[ASN][1000 genomes]
rs73899348	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8127064	1.00[ASN][1000 genomes]
rs8130700	0.85[EUR][1000 genomes]
rs8131204	1.00[ASN][1000 genomes]
rs8992	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9647124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28340400-28349600	Weak transcription	HSMM	muscle
2	chr21:28346000-28346800	Enhancers	Ovary	ovary
3	chr21:28346000-28349800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:28346200-28349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr21:28346200-28359400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:28346400-28349600	Weak transcription	Osteobl	bone
7	chr21:28346400-28349800	Weak transcription	NHDF-Ad	bronchial

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